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Approach to the treatment of the infant with hyponatremia

Jason H Greenberg1, Alda Tufro1, Olivera Marsenic1

  • 1Division of Pediatric Nephrology, Yale University School of Medicine, New Haven, CT.

American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation
|December 28, 2014
PubMed

Insights

Infants with hyponatremia, a common electrolyte disorder, may have symptoms like seizures. This case highlights nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by AVPR2 gene mutations.

Area of Science:

  • Pediatrics
  • Genetics
  • Endocrinology

Background:

  • Hyponatremia in infants is an electrolyte imbalance linked to inherited or acquired conditions.
  • Neurologic symptoms like vomiting, weakness, and seizures can manifest in infants with hyponatremia.
  • Common causes include excessive hypotonic fluid intake and gastrointestinal salt loss.

Observation:

  • Less common causes include mineralocorticoid issues and arginine vasopressin dysregulation.
  • Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from AVPR2 gene mutations, causing fluid retention.
  • This study details an infant with NSIAD-induced hyponatremia, whose mother has an AVPR2 mutation.

Findings:

  • The infant presented with hyponatremia due to NSIAD.
  • A familial link was identified, with the mother carrying a known AVPR2 gene mutation.
  • The study outlines treatment approaches and challenges for infantile hyponatremia in this context.

Implications:

  • This case underscores the importance of genetic evaluation in infantile hyponatremia.
  • Understanding AVPR2 mutations is crucial for diagnosing and managing NSIAD.
  • Early diagnosis and tailored treatment are vital for infants with inherited forms of hyponatremia.

Keywords:
HyponatremiaR137Carginine vasopressin receptor 2 (AVPR2)gain-of-function mutationinfancynephrogenic syndrome of inappropriate antidiuresis (NSIAD)serum sodium concentrationureavasopressin

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